Linked Data
ClinVar Variation Id:
515650
dbSNP Id:
rs368932767
ExAC:
2:179413139 G / A
gnomAD v2:
2-179413139-G-A
gnomAD v3:
2-178548412-G-A
gnomAD v4:
2-178548412-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178548412G>A , CM000664.2:g.178548412G>A | GRCh38 |
| NC_000002.11:g.179413139G>A , CM000664.1:g.179413139G>A | GRCh37 |
| NC_000002.10:g.179121385G>A | NCBI36 |
| NG_011618.3:g.287391C>T , LRG_391:g.287391C>T | |
| NG_051363.1:g.30586G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.85510C>T (TTN) | ENSP00000343764.6:p.Arg28504Cys | |
| ENST00000342175.11:c.66595C>T (TTN) | ENSP00000340554.6:p.Arg22199Cys | |
| ENST00000359218.10:c.66394C>T (TTN) | ENSP00000352154.5:p.Arg22132Cys | |
| ENST00000342175.10:c.66595C>T (TTN) | ENSP00000340554.6:p.Arg22199Cys | |
| ENST00000342992.10:c.85510C>T (TTN) | ENSP00000343764.6:p.Arg28504Cys | |
| ENST00000359218.9:c.66394C>T (TTN) | ENSP00000352154.5:p.Arg22132Cys | |
| ENST00000460472.6:c.66019C>T (TTN) | ENSP00000434586.1:p.Arg22007Cys | |
| ENST00000589042.5:c.93214C>T (TTN) MANE Select | ENSP00000467141.1:p.Arg31072Cys | |
| ENST00000591111.5:c.88291C>T (TTN) | ENSP00000465570.1:p.Arg29431Cys | |
| ENST00000615779.4:c.88291C>T (TTN) | ENSP00000483597.1:p.Arg29431Cys | |
| NM_001256850.1:c.88291C>T (TTN) | NP_001243779.1:p.Arg29431Cys | |
| NM_001267550.2:c.93214C>T (TTN) MANE Select | NP_001254479.2:p.Arg31072Cys | |
| NM_003319.4:c.66019C>T (TTN) | NP_003310.4:p.Arg22007Cys | |
| NM_133378.4:c.85510C>T (TTN) | NP_596869.4:p.Arg28504Cys | |
| NM_133432.3:c.66394C>T (TTN) | NP_597676.3:p.Arg22132Cys | |
| NM_133437.4:c.66595C>T (TTN) | NP_597681.4:p.Arg22199Cys | |
| NR_038271.1:n.447-22888G>A (TTN-AS1) | ||
| NR_038272.1:n.2043+6051G>A (TTN-AS1) | ||
| XM_011511729.1:c.92311C>T (TTN) | XP_011510031.1:p.Arg30771Cys | |
| XM_011511730.1:c.66205C>T (TTN) | XP_011510032.1:p.Arg22069Cys | |
| XM_011511731.1:c.66064C>T (TTN) | XP_011510033.1:p.Arg22022Cys | |
| XM_017004819.1:c.92107C>T (TTN) | XP_016860308.1:p.Arg30703Cys | |
| XM_017004820.1:c.87505C>T (TTN) | XP_016860309.1:p.Arg29169Cys | |
| XM_017004821.1:c.87502C>T (TTN) | XP_016860310.1:p.Arg29168Cys | |
| XM_017004822.1:c.84544C>T (TTN) | XP_016860311.1:p.Arg28182Cys | |
| XM_017004823.1:c.66160C>T (TTN) | XP_016860312.1:p.Arg22054Cys | |
| XM_024453094.1:c.87655C>T (TTN) | XP_024308862.1:p.Arg29219Cys | |
| XM_024453095.1:c.87652C>T (TTN) | XP_024308863.1:p.Arg29218Cys | |
| XM_024453096.1:c.87085C>T (TTN) | XP_024308864.1:p.Arg29029Cys | |
| XM_024453097.1:c.84427C>T (TTN) | XP_024308865.1:p.Arg28143Cys | |
| XM_024453098.1:c.84346C>T (TTN) | XP_024308866.1:p.Arg28116Cys | |
| XM_024453099.1:c.66109C>T (TTN) | XP_024308867.1:p.Arg22037Cys | |
| XM_024453100.1:c.55963C>T (TTN) | XP_024308868.1:p.Arg18655Cys |